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- Grundberg, E, et al.
(författare)
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A deletion polymorphism in the RIZ gene, a female sex steroid hormone receptor coactivator, exhibits decreased response to estrogen in vitro and associates with low bone mineral density in young Swedish women
- 2004
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Ingår i: Journal of Clinical Endocrinology and Metabolism. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 89:12, s. 6173-6178
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Tidskriftsartikel (refereegranskat)abstract
- Low bone mineral density (BMD) is a major risk factor for osteoporotic fracture, and the trait is under genetic control by a large number of genes. It is recognized that estrogen plays an important role in the maintenance of bone mass by binding to estrogen receptor a (ERa). RIZ1 has previously been shown to be a specific ERa coactivator and strongly enhances its function both in vivo and in vitro. We performed in vitro studies comparing the abilities of RIZ1 P704 polymorphic variants (homozygous presence, P704+; absence, P704-; heterozygosity P704+/- of a proline at position 704) to coactivate the ERa and also examined the polymorphism associated to BMD of 343 Swedish women, aged 20-39 yr. The expression vector containing P704- RIZ1 showed an impaired response in coactivating ERa in a ligand- and dose-dependent manner compared with P704+ RIZ (P < 0.0001). The genotype frequencies were 19% (P704+), 32% (P704-), and 49% (P704+/-) and were in Hardy-Weinberg equilibrium. BMD at the heel was higher in the P704+ genotype group than in the P704+/- group (P = 0.02), which was evident also after corrections for fat and lean mass (P = 0.03). We conclude that RIZ1 may be a new candidate gene for involvement in the variation seen in BMD.
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| 2. |
- Johansson, E. E., et al.
(författare)
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Aspects of the chemistry of cellulose degradation and the effect of ethylene glycol during ozone delignification of kraft pulps
- 2000
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Ingår i: Journal of Pulp and Paper Science (JPPS). - 0826-6220. ; 26:7, s. 239-244
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Tidskriftsartikel (refereegranskat)abstract
- The viscosities of oxygen-predelignified kraft pulps were measured as they were ozonated at high consistency. The degree of degradation of thc cellulose was calculated from the viscosities as direct (ds) and indirect, alkali-induced, scissions (als) in the polymer: Als was derived using the decrease in the observed degradation when a borohydride reduction preceded the alkaline extraction of the ozonated pulps. The mechanism of these Scissions is discussed in terms of free-radical reactions and their relative significance. A given charge of ozone to a lignin-containing or lignin-free pulp produced similar degrees of carbohydrate degradation, indicating that the degradation does not depend greatly on the presence of the lignin in the pulp. Ethylene glycol (EG) increases the selectivity during ozone delignification much more than methanol. This effect is optimal at pH3 and 25 wt% EG in the reaction system. The increased selectivity may have several possible reasons. one is the limited extent of free-radical reactions (e.g. hydroxyl radicals) occurring in the carbohydrate chain.
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| 3. |
- Nelson, A E, et al.
(författare)
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Diagnosis of a patient with oncogenic osteomalacia using a phosphate uptake bioassay of serum and magnetic resonance imaging
- 2001
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Ingår i: European Journal of Endocrinology. - : Oxford University Press (OUP). - 0804-4643 .- 1479-683X. ; 145:4, s. 469-476
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Tidskriftsartikel (refereegranskat)abstract
- A previously healthy man with no family history of fractures presented with muscle pain, back pain and height loss. Investigations revealed hypophosphataemia, phosphaturia, undetectable serum 1,25-dihydroxyvitamin D and severe osteomalacia on bone biopsy, suggestive of a diagnosis of oncogenic osteomalacia. Thorough physical examination did not locate a tumour. Support for the diagnosis was obtained by detection of phosphate uptake inhibitory activity in a blinded sample of the patient's serum using a renal cell bioassay. On the basis of detection of this bioactivity, a total body magnetic resonance (MR) examination was performed. A small tumour was located in the right leg. Removal of the tumour resulted in the rapid reversal of symptoms and the abnormal biochemistry typical of oncogenic osteomalacia. Inhibitory activity was also demonstrated using the bioassay in serum from two other patients with confirmed or presumptive oncogenic osteomalacia, but not in serum from two patients with hypophosphataemia of other origin. This is the first case to be reported in which the diagnosis of oncogenic osteomalacia was assisted by demonstration of inhibitory activity of the patient's serum in a renal cell phosphate bioassay that provided an impetus for total body MR imaging.
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| 7. |
- Backstrom, E, et al.
(författare)
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Viral infections & autoimmune disease
- 2002
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Ingår i: JOURNAL OF NEUROVIROLOGY. - : Springer Science and Business Media LLC. - 1355-0284 .- 1538-2443. ; 8:SUPPL 1, s. 30-31
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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